Fanconi AnemiaNCT06958380
Corrective Exercise and Rehabilitation in Fanconi Anemia: A Case Study
A study testing Corrective exercise and rehabilitation in people with Fanconi Anemia, run by Pardis Specialized Wellness Institute at 1 site in Iran.
Trial summary
Introduction: Fanconi anemia (FA) is a rare autosomal recessive DNA repair disorder characterized by congenital malformations, progressive bone marrow failure, and reduced quality of life. Read more about this study
- Who is it for?
- Ages 18 years and older, men only
- Conditions the study is for
- Fanconi Anemia
- What is being tested?
- Corrective exercise and rehabilitation
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteIran
- Study dates
- 3 May 2025to 20 Jul 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Men only
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Confirmed diagnosis of Fanconi Anemia through genetic testing
- Age 18 years or older
- Medically stable and cleared for exercise participation by their physician
- Ability to provide informed consent
- Access to a smartphone, tablet, or computer with stable internet connection
- Willingness to participate in scheduled rehabilitation sessions over 12 weeks
Who cannot join
- Presence of unstable medical conditions (e.g., uncontrolled infections, recent surgery, severe cardiopulmonary issues)
- Cognitive impairments that interfere with understanding or performing exercise instructions
- Recent hematopoietic stem cell transplantation (within past 3 months)
- Concurrent participation in another structured physical rehabilitation program
Trial locations and contacts
1 site in 1 country.
About this study
Official title: The Impact of Corrective Exercise and Rehabilitation on a Patient With Fanconi Anemia: A Clinical Case Study
Introduction: Fanconi anemia (FA) is a rare autosomal recessive DNA repair disorder characterized by congenital malformations, progressive bone marrow failure, and reduced quality of life. Although physical and occupational therapy are routinely recommended to address skeletal anomalies in FA, no studies have evaluated the impact of a structured corrective exercise and rehabilitation program on patient outcomes.
Method: In this single case clinical report, an adult FA patient will complete a 12 week supervised corrective exercise and rehabilitation program (36 sessions; 3 × 40-45 min/week) delivered via in-person supervised sessions. Primary outcome is change in patient reported quality of life (SF 36) from baseline to week 12; secondary outcomes include muscle strength, fatigue severity, postural parameters, and hematological indices.
Read the detailed description
Fanconi anemia (FA), first described in 1927 by Dr. Guido Fanconi, is a rare, inherited, autosomal recessive disorder affecting proteins involved in DNA repair and cell cycle regulation. This syndrome is characterized by congenital malformations (involving the limbs, skeletal system, kidneys and urinary structures, sensory organs (eyes and ears) and central nervous system), progressive bone marrow failure (aplastic anemia), increased cancer incidence (particularly head/neck epithelial cancers and acute myeloid leukemia (AML)) and a range of physical anomalies (including microcephaly and short stature).
Higher prevalence rates of FA have been observed in populations with a high incidence of consanguineous marriages, including South African Blacks, Turks, Saudi Arabians, Ashkenazi Jews and Iranians. Globally, the disorder affects approximately 1 in every 160,000 to 360,000 individuals, while the estimated carrier frequency is around 0.3%.
FA results from mutations in at least 22 genes involved in genomic stability and DNA repair. The majority of FA-related changes-accounting for more than 80%-are found in the FANCA, FANCG, and FANCC genes, whereas alterations in the remaining genes are comparatively rare.
The diagnosis of FA, though challenging due to variable expressiveness, relies on clinical suspicion confirmed through genetic analysis. FA should be suspected in cases of de novo bone marrow failure, especially in younger patients, or in the presence of spontaneous chromosomal breaks and certain cytogenetic abnormalities. Early diagnosis, while not currently improving cure rates, enables healthcare professionals to implement systematic follow-up protocols and timely interventions.
Therapeutic management of FA relies on vigilant, risk adapted monitoring of hematologic status-complete blood counts and bone marrow assessments are scheduled from every six months to six weeks based on cytopenia severity-to detect dysplasia or clonal abnormalities. Supportive care with red cell and platelet transfusions, infection prophylaxis, and occasional androgen therapy helps maintain blood counts while preparing for hematopoietic stem cell transplantation (HSCT). Transplantation, preferably before transfusion dependence or emergence of poor risk cytogenetic changes, offers the only curative approach to marrow failure. Simultaneously, long term surveillance addresses FA's systemic complications through regular cancer screenings and organ specific evaluations.
Despite the established role of physical and occupational therapy in managing skeletal abnormalities in FA, there is a notable scarcity of research specifically examining the effectiveness of structured exercise rehabilitation programs for this population. In a similar study, Ye et al. (2024) found that a structured exercise rehabilitation program improved quality of life, reduced fatigue, and enhanced physical performance in aplastic anemia patients undergoing HSCT. These promising outcomes support the potential benefit of a similar approach in Fanconi anemia patients. Based on the identified research gaps, the investigators hypothesize that a structured program of corrective exercise, physical therapy interventions, and rehabilitation will improve quality of life, physical function, and potentially influence hematological parameters in patients with Fanconi anemia.
The primary objective of this case study is to evaluate the effectiveness of these interventions on patient-reported quality of life. Secondary objectives include assessing improvements in muscle strength, fatigue levels, functional independence in activities of daily living, and monitoring potential changes in hematological indicators. Our intervention will encompass a structured exercise rehabilitation program beginning at an appropriate phase of treatment and continuing through a defined follow-up period. This case study aims to provide preliminary evidence to guide the development of comprehensive rehabilitation protocols specifically designed for the FA population, addressing both the skeletal abnormalities and the systemic manifestations of the condition.
- Conditions
- Fanconi Anemia
- Being tested
- Corrective exercise and rehabilitation
- Keywords
- Corrective Exercise, Quality of Life (QoL), Physical Therapy Intervention, Fatigue, Postural Correction
- Medical subject headings
- Fanconi Anemia, Fatigue
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Corrective exercise and rehabilitationBehavioural
This is a longitudinal single-subject case study in which one adult patient diagnosed with Fanconi anemia will undergo a structured, supervised corrective exercise and rehabilitation program. The subject will serve as their own control, with baseline measurements compared to post-intervention outcomes.
| Study group | Role | What they receive |
|---|---|---|
| Exercise group | Experimental | The patient in this clinical case study will undergo a 12-week corrective exercise and rehabilitation program specifically tailored to individuals with Fanconi Anemia. Each session will be conducted via in-person supervised sessions and will last approximately 40-45 minutes, performed three times per week, totaling 36 sessions. The program will incorporate exercises targeting postural correction, functional mobility, strength, and endurance, and will be supervised in real-time by a trained rehabilitation specialist. Receives: Behavioral: Corrective exercise and rehabilitation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Rate of changes in hyper-kyphosis
Evaluating the effect of supervised exercise on hyper-kyphosis using the Debrunner Kyphometer, a non-radiologic gold standard tool. This device measures the kyphosis angle by positioning its arms on the spinous processes of T2-T3 (upper point) and T11-T12 (lower point), with direct angle readings from the calibrated scale. Measurements are taken in degrees, with hyper-kyphosis defined as ≥53° in women and ≥55° in men.
Measured: Pre-intervention and Week 12
Rate of changes in forward head posture
Evaluating the effect of supervised exercise on forward head posture craniocervical angle (CVA) analysis using digital photogrammetry. Reflective markers are placed on the C7 spinous process and the tragus of the ear, followed by lateral image capture at a standardized 1.5-meter distance. Image analysis software, such as Kinovea, automatically calculates the CVA angle. A normal posture is defined as CVA ≥53°, while a severe forward head posture is <50°.
Measured: Pre-intervention and Week 12
Secondary outcomes (7)
Change in Quality of Life (SF-36)
Evaluating improvements in quality of life using the Kidney Disease Quality of Life 36-item survey (KDQOL-36) questionnaire. For all KDQOL-36 subscales, scores range from 0 to 100, with higher scores consistently indicating better health-related quality of life outcomes.
Measured: Pre-intervention and Week 12
Change in Fatigue Severity
Measuring fatigue levels before and after the intervention using Fatigue Severity Scale (FSS) (9 items on a Likert scale 1-7 (total range 9-63); Score interpretation: ≥36 indicates clinical fatigue, ≤18 indicates no fatigue. ICC = 0.91). Higher scores indicate greater fatigue.
Measured: Pre-intervention and Week 12
Rate of changes of daily physical activity level
Assessing the effect of supervised exercise on daily activity levels using the LowPAQ questionnaire which evaluates physical activity across occupational, transportation, household, leisure, and sedentary domains, with scoring in MET-minutes per week for light (3.3 MET), moderate (4.0 MET), and vigorous (8.0 MET) activities. Activity levels are categorized as low (<600 MET-min/week), active (600-3000 MET-min/week), and highly active (>3000 MET-min/week), aligned with WHO guidelines.
Measured: Pre-intervention and Week 12
Change in Muscle Strength
To evaluate the impact of the intervention on muscle strength using handheld dynamometry.
Handheld dynamometry is a quantitative method for measuring isometric muscle strength. The device records maximal force exerted by the patient in standardized positions. It is portable and has shown high intra- and inter-rater reliability. The full assessment typically takes 15-20 minutes and includes major muscle groups involved in posture and mobility.
Measured: Pre-intervention and Week 12
Rate of changes of balance and fall risk
Assessing balance improvements and fall risk reduction using Timed Up and Go (TUG) Test duration (unit: seconds, Time required to rise, walk 3 meters, turn, and return; diagnostic threshold ≥12 seconds indicates fall risk).
Measured: Pre-intervention and Week 12
Rate of changes of physical function
Evaluating physical function improvement using the 6-minute walk test (6MWT), which measures the maximum distance covered in 6 minutes (unit: meters). Reference values: 400-700 meters for older adults and 150-346 meters for heart failure patients.
Measured: Pre-intervention and Week 12
Number of participants with abnormal hematological test results
Abnormal values will be defined based on standard lab reference ranges for Hgb, WBC, and Plt. Outcome reported as number of participants with ≥1 abnormal value.
Measured: Baseline, Week 6, and Week 12
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 May 2025
- Study start3 May 2025
- Primary completion2 Jul 2025
- Study completion20 Jul 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (11)Papers the sponsor has linked to this study.
- Other trials for Fanconi AnemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Supportive care
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- This is a longitudinal single-subject case study in which one adult patient diagnosed with Fanconi anemia will undergo a structured, in-person supervised corrective exercise and rehabilitation program. The subject will serve as their own control, with baseline measurements compared to post-intervention outcomes.
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Pardis Specialized Wellness Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Mohammad Ali Tabibi, Dr, Study director, Pardis Specialized Wellness Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06958380
- Sponsor's protocol ID
- PA25FA-2-03
- Status last verified
- Aug 2025
- First submitted
- 26 Apr 2025
- Last updated
- 12 Aug 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Individual participant data (IPD) that underlie the results reported in the published article, after deidentification are to be shared
Publications
Akshintala S, Khalil N, Yohay K, Muzikansky A, Allen J, Yaffe A, Gross AM, Fisher MJ, Blakeley JO, Oberlander B, Pudel M, Engelson C, Obletz J, Mitchell C, Widemann BC, Stevenson DA, Plotkin SR; REiNS International Collaboration. Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2. Neurology. 2021 Aug 17;97(7 Suppl 1):S99-S110. doi: 10.1212/WNL.0000000000012439. Epub 2021 Jul 6.
PubMed 34230196Altintas B, Giri N, McReynolds LJ, Best A, Alter BP. Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort. Haematologica. 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981.
PubMed 35417938Eghbali A, Safdari SM, Yousefi Roozbahani M, Tavajohi K, Hosseini S. Fanconi Anemia: Challenges in Diagnosis and Management-A Case Series Report. Clin Case Rep. 2024 Nov 17;12(11):e9583. doi: 10.1002/ccr3.9583. eCollection 2024 Nov.
PubMed 39559288Dufour C, Pierri F. Modern management of Fanconi anemia. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):649-657. doi: 10.1182/hematology.2022000393.
PubMed 36485157Hardy SE, Gill TM. Factors associated with recovery of independence among newly disabled older persons. Arch Intern Med. 2005 Jan 10;165(1):106-12. doi: 10.1001/archinte.165.1.106.
PubMed 15642885Impellizzeri FM, Agosti F, De Col A, Sartorio A. Psychometric properties of the Fatigue Severity Scale in obese patients. Health Qual Life Outcomes. 2013 Mar 6;11:32. doi: 10.1186/1477-7525-11-32.
PubMed 23496886Moreno OM, Paredes AC, Suarez-Obando F, Rojas A. An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review). Biomed Rep. 2021 Sep;15(3):74. doi: 10.3892/br.2021.1450. Epub 2021 Jul 15.
PubMed 34405046Singla D, Veqar Z. Association Between Forward Head, Rounded Shoulders, and Increased Thoracic Kyphosis: A Review of the Literature. J Chiropr Med. 2017 Sep;16(3):220-229. doi: 10.1016/j.jcm.2017.03.004. Epub 2017 Sep 28.
PubMed 29097952Rayi A, Hozayen S. Chromosome Instability Syndromes. 2022 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK537198/
PubMed 30725883Wardyn GG, Rennard SI, Brusnahan SK, McGuire TR, Carlson ML, Smith LM, McGranaghan S, Sharp JG. Effects of exercise on hematological parameters, circulating side population cells, and cytokines. Exp Hematol. 2008 Feb;36(2):216-23. doi: 10.1016/j.exphem.2007.10.003.
PubMed 18206729Ye M, Liu T, Mao X, Tan X, Wang J, Xu M. Effectiveness of exercise rehabilitation on aplastic anemia patients receiving hematopoietic stem cell transplantation: study protocol for a randomized controlled trial. Trials. 2024 Jun 5;25(1):361. doi: 10.1186/s13063-024-08197-4.
PubMed 38840199
Study at a glance
From the registry record, last updated by the sponsor on 12 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Impact of Corrective Exercise and Rehabilitation on a Patient With Fanconi Anemia: A Clinical Case Study
- ClinicalTrials.gov ID
- NCT06958380
- Acronym / sponsor ID
- PA25FA-2-03
- Conditions
- Fanconi Anemia
- Keywords
- Corrective Exercise, Quality of Life (QoL), Physical Therapy Intervention, Fatigue, Postural Correction
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Pardis Specialized Wellness InstituteUniversity, hospital or other
- Study start
- 3 May 2025 (actual)
- Primary completion
- 2 Jul 2025 (actual)
- Study completion
- 20 Jul 2025 (actual)
- First posted
- 6 May 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Introduction: Fanconi anemia (FA) is a rare autosomal recessive DNA repair disorder characterized by congenital malformations, progressive bone marrow failure, and reduced quality of life. Although physical and occupational therapy are routinely recommended to address skeletal anomalies in FA, no studies have evaluated the impact of a structured corrective exercise and rehabilitation program on patient outcomes.
Method: In this single case clinical report, an adult FA patient will complete a 12 week supervised corrective exercise and rehabilitation program (36 sessions; 3 × 40-45 min/week) delivered via in-person supervised sessions. Primary outcome is change in patient reported quality of life (SF 36) from baseline to week 12; secondary outcomes include muscle strength, fatigue severity, postural parameters, and hematological indices.
Detailed description
Fanconi anemia (FA), first described in 1927 by Dr. Guido Fanconi, is a rare, inherited, autosomal recessive disorder affecting proteins involved in DNA repair and cell cycle regulation. This syndrome is characterized by congenital malformations (involving the limbs, skeletal system, kidneys and urinary structures, sensory organs (eyes and ears) and central nervous system), progressive bone marrow failure (aplastic anemia), increased cancer incidence (particularly head/neck epithelial cancers and acute myeloid leukemia (AML)) and a range of physical anomalies (including microcephaly and short stature).
Higher prevalence rates of FA have been observed in populations with a high incidence of consanguineous marriages, including South African Blacks, Turks, Saudi Arabians, Ashkenazi Jews and Iranians. Globally, the disorder affects approximately 1 in every 160,000 to 360,000 individuals, while the estimated carrier frequency is around 0.3%.
FA results from mutations in at least 22 genes involved in genomic stability and DNA repair. The majority of FA-related changes-accounting for more than 80%-are found in the FANCA, FANCG, and FANCC genes, whereas alterations in the remaining genes are comparatively rare.
The diagnosis of FA, though challenging due to variable expressiveness, relies on clinical suspicion confirmed through genetic analysis. FA should be suspected in cases of de novo bone marrow failure, especially in younger patients, or in the presence of spontaneous chromosomal breaks and certain cytogenetic abnormalities. Early diagnosis, while not currently improving cure rates, enables healthcare professionals to implement systematic follow-up protocols and timely interventions.
Therapeutic management of FA relies on vigilant, risk adapted monitoring of hematologic status-complete blood counts and bone marrow assessments are scheduled from every six months to six weeks based on cytopenia severity-to detect dysplasia or clonal abnormalities. Supportive care with red cell and platelet transfusions, infection prophylaxis, and occasional androgen therapy helps maintain blood counts while preparing for hematopoietic stem cell transplantation (HSCT). Transplantation, preferably before transfusion dependence or emergence of poor risk cytogenetic changes, offers the only curative approach to marrow failure. Simultaneously, long term surveillance addresses FA's systemic complications through regular cancer screenings and organ specific evaluations.
Despite the established role of physical and occupational therapy in managing skeletal abnormalities in FA, there is a notable scarcity of research specifically examining the effectiveness of structured exercise rehabilitation programs for this population. In a similar study, Ye et al. (2024) found that a structured exercise rehabilitation program improved quality of life, reduced fatigue, and enhanced physical performance in aplastic anemia patients undergoing HSCT. These promising outcomes support the potential benefit of a similar approach in Fanconi anemia patients. Based on the identified research gaps, the investigators hypothesize that a structured program of corrective exercise, physical therapy interventions, and rehabilitation will improve quality of life, physical function, and potentially influence hematological parameters in patients with Fanconi anemia.
The primary objective of this case study is to evaluate the effectiveness of these interventions on patient-reported quality of life. Secondary objectives include assessing improvements in muscle strength, fatigue levels, functional independence in activities of daily living, and monitoring potential changes in hematological indicators. Our intervention will encompass a structured exercise rehabilitation program beginning at an appropriate phase of treatment and continuing through a defined follow-up period. This case study aims to provide preliminary evidence to guide the development of comprehensive rehabilitation protocols specifically designed for the FA population, addressing both the skeletal abnormalities and the systemic manifestations of the condition.
Study design
- Primary purpose
- Supportive care
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- This is a longitudinal single-subject case study in which one adult patient diagnosed with Fanconi anemia will undergo a structured, in-person supervised corrective exercise and rehabilitation program. The subject will serve as their own control, with baseline measurements compared to post-intervention outcomes.
| Arm | Type | Receives |
|---|---|---|
| Exercise group | Experimental | Behavioral: Corrective exercise and rehabilitationThe patient in this clinical case study will undergo a 12-week corrective exercise and rehabilitation program specifically tailored to individuals with Fanconi Anemia. Each session will be conducted via in-person supervised sessions and will last approximately 40-45 minutes, performed three times per week, totaling 36 sessions. The program will incorporate exercises targeting postural correction, functional mobility, strength, and endurance, and will be supervised in real-time by a trained rehabilitation specialist. |
Who may qualify
- Ages
- 18 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- Confirmed diagnosis of Fanconi Anemia through genetic testing
- Age 18 years or older
- Medically stable and cleared for exercise participation by their physician
- Ability to provide informed consent
- Access to a smartphone, tablet, or computer with stable internet connection
Key exclusion criteria (4 listed)
- Presence of unstable medical conditions (e.g., uncontrolled infections, recent surgery, severe cardiopulmonary issues)
- Cognitive impairments that interfere with understanding or performing exercise instructions
- Recent hematopoietic stem cell transplantation (within past 3 months)
- Concurrent participation in another structured physical rehabilitation program
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Corrective exercise and rehabilitationThis is a longitudinal single-subject case study in which one adult patient diagnosed with Fanconi anemia will undergo a structured, supervised corrective exercise and rehabilitation program. The subject will serve as their own control, with baseline measurements compared to post-intervention outcomes. | Behavioural | Exercise group |
Primary outcome
Rate of changes in hyper-kyphosis
Time frame: Pre-intervention and Week 12
Evaluating the effect of supervised exercise on hyper-kyphosis using the Debrunner Kyphometer, a non-radiologic gold standard tool. This device measures the kyphosis angle by positioning its arms on the spinous processes of T2-T3 (upper point) and T11-T12 (lower point), with direct angle readings from the calibrated scale. Measurements are taken in degrees, with hyper-kyphosis defined as ≥53° in women and ≥55° in men.
Rate of changes in forward head posture
Time frame: Pre-intervention and Week 12
Evaluating the effect of supervised exercise on forward head posture craniocervical angle (CVA) analysis using digital photogrammetry. Reflective markers are placed on the C7 spinous process and the tragus of the ear, followed by lateral image capture at a standardized 1.5-meter distance. Image analysis software, such as Kinovea, automatically calculates the CVA angle. A normal posture is defined as CVA ≥53°, while a severe forward head posture is <50°.
7 secondary outcomes
Change in Quality of Life (SF-36)
Time frame: Pre-intervention and Week 12
Change in Fatigue Severity
Time frame: Pre-intervention and Week 12
Rate of changes of daily physical activity level
Time frame: Pre-intervention and Week 12
Change in Muscle Strength
Time frame: Pre-intervention and Week 12
Rate of changes of balance and fall risk
Time frame: Pre-intervention and Week 12
Rate of changes of physical function
Time frame: Pre-intervention and Week 12
Number of participants with abnormal hematological test results
Time frame: Baseline, Week 6, and Week 12
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Aug 2025.
- Background: PubMed 34230196Akshintala S, Khalil N, Yohay K, Muzikansky A, Allen J, Yaffe A, Gross AM, Fisher MJ, Blakeley JO, Oberlander B, Pudel M, Engelson C, Obletz J, Mitchell C, Widemann BC, Stevenson DA, Plotkin SR; REiNS International Collaboration. Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2. Neurology. 2021 Aug 17;97(7 Suppl 1):S99-S110. doi: 10.1212/WNL.0000000000012439. Epub 2021 Jul 6.
- Background: PubMed 35417938Altintas B, Giri N, McReynolds LJ, Best A, Alter BP. Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort. Haematologica. 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981.
- Background: PubMed 39559288Eghbali A, Safdari SM, Yousefi Roozbahani M, Tavajohi K, Hosseini S. Fanconi Anemia: Challenges in Diagnosis and Management-A Case Series Report. Clin Case Rep. 2024 Nov 17;12(11):e9583. doi: 10.1002/ccr3.9583. eCollection 2024 Nov.
- Background: PubMed 36485157Dufour C, Pierri F. Modern management of Fanconi anemia. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):649-657. doi: 10.1182/hematology.2022000393.
- Background: PubMed 15642885Hardy SE, Gill TM. Factors associated with recovery of independence among newly disabled older persons. Arch Intern Med. 2005 Jan 10;165(1):106-12. doi: 10.1001/archinte.165.1.106.
- Background: PubMed 23496886Impellizzeri FM, Agosti F, De Col A, Sartorio A. Psychometric properties of the Fatigue Severity Scale in obese patients. Health Qual Life Outcomes. 2013 Mar 6;11:32. doi: 10.1186/1477-7525-11-32.
- Background: PubMed 34405046Moreno OM, Paredes AC, Suarez-Obando F, Rojas A. An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review). Biomed Rep. 2021 Sep;15(3):74. doi: 10.3892/br.2021.1450. Epub 2021 Jul 15.
- Background: PubMed 29097952Singla D, Veqar Z. Association Between Forward Head, Rounded Shoulders, and Increased Thoracic Kyphosis: A Review of the Literature. J Chiropr Med. 2017 Sep;16(3):220-229. doi: 10.1016/j.jcm.2017.03.004. Epub 2017 Sep 28.
- Background: PubMed 30725883Rayi A, Hozayen S. Chromosome Instability Syndromes. 2022 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK537198/
- Background: PubMed 18206729Wardyn GG, Rennard SI, Brusnahan SK, McGuire TR, Carlson ML, Smith LM, McGranaghan S, Sharp JG. Effects of exercise on hematological parameters, circulating side population cells, and cytokines. Exp Hematol. 2008 Feb;36(2):216-23. doi: 10.1016/j.exphem.2007.10.003.
- Background: PubMed 38840199Ye M, Liu T, Mao X, Tan X, Wang J, Xu M. Effectiveness of exercise rehabilitation on aplastic anemia patients receiving hematopoietic stem cell transplantation: study protocol for a randomized controlled trial. Trials. 2024 Jun 5;25(1):361. doi: 10.1186/s13063-024-08197-4.
- Individual participant dataSharing planned: Yes. Individual participant data (IPD) that underlie the results reported in the published article, after deidentification are to be shared
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mohammad Ali Tabibi, Dr study director
Pardis Specialized Wellness Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Corrective exercise and rehabilitation in people with Fanconi Anemia, run by Pardis Specialized Wellness Institute at 1 site in Iran.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 12 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Iran. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rate of changes in hyper-kyphosis (time frame: Pre-intervention and Week 12). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06958380, which also lists 11 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Aug 2025.