Friedreich AtaxiaEarly Phase 1NCT02424435
Methylprednisolone Treatment of Friedreich Ataxia
A Early Phase 1 study testing Methylprednisolone in people with Friedreich Ataxia, run by Children's Hospital of Philadelphia at 1 site in United States.
Trial summary
This study will explore whether methylprednisolone treatment is safe, well-tolerated, and beneficial in patients that are diagnosed with Friedreich Ataxia (FRDA). The study will also explore if methylprednisolone has any effects on biomarkers associated with FRDA. Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- Friedreich Ataxia
- What is being tested?
- Methylprednisolone
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 11 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2015to Apr 2018
- Phase
- Early Phase 1
- 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 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Subjects with FRDA confirmed by genetic testing who are able to walk 25 feet (assistive devices allowed).
- Children between ages 5 and less than 10 years or adults ages 45 years and older at screening.
- Stable doses of all medications, vitamins and supplements for 30 days prior to study entry and for the duration of the study. Throughout the study, all possible efforts will be made to maintain stable doses of concomitant medications.
- Females who are not pregnant or breast feeding, and who do not intend to become pregnant. Females of child-bearing potential must use a reliable method of contraception and must provide a negative urine pregnancy test at screening.
- Informed consent for adult participants, parent/guardian permission (informed consent) and child assent for pediatric participants.
Who cannot join
- Patients unable to walk 25 feet.
- Treatment with methylprednisolone or cyclic methylprednisolone during the 3 previous months before inclusion.
- Treatment with gamma interferon, immunoglobulin G or other immunomodulating treatment the 3 previous month before inclusion
- Immunosuppressive treatment within 6 month of inclusion
- Prior history of a disease associated with immune dysfunction
- Poorly controlled Diabetes Mellitus (HbA1C > 9.0)
Show all 12Show fewer
- History of untreated or uncontrolled hypertension
- Presence of infectious disease or other active infections which the treating physician finds relevant
- Active or previous history of liver or renal failure
- Known history of renal insufficiency or creatinine > 2 x upper limit of normal (ULN)
- Active infection at time of screening
- History of known osteoporosis
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
About this study
Official title: Open-label Pilot Study of Methylprednisolone for the Treatment of Patients With Friedreich Ataxia (FRDA)
This study will explore whether methylprednisolone treatment is safe, well-tolerated, and beneficial in patients that are diagnosed with Friedreich Ataxia (FRDA). The study will also explore if methylprednisolone has any effects on biomarkers associated with FRDA. All subjects in the study will receive the same steroid treatment.
Read the detailed description
Context:
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. One of the hallmarks of FRDA is a deficiency of frataxin protein, causing dysregulation of iron metabolism, lack of detoxification, and increased iron bioavailability. The accumulation of iron in mitochondria leads to increased sensitivity to oxidative stress. A secondary inflammatory response has also been proposed to be present in FRDA, as revealed in autopsy studies and in the alteration of immune pathways in microarray analysis. Inflammation in FRDA raises the possibility of a therapeutic benefit from anti-inflammatory steroid treatment, as inflammation may directly underlie multiple complications of FRDA including cardiomyopathy. In support of this theory are clinical observations and patient self-reports of improvement of ataxia symptoms following the prescription of steroids for indications other than the primary FRDA diagnosis.
Objectives:
Primary: To assess the effect of oral administration of methylprednisolone on the functional performance scores of patients with FRDA using the Timed 25-Foot Walk (T25FW).
Secondary: To assess the effect of methylprednisolone on neurological performance measures (Friedreich Ataxia Rating Scale, 9-Hole Peg Test, 1-minute walk, home-based measures of gait, hand function and speech assessed through smartphone application) and to assess the safety and tolerability of methylprednisolone in the FRDA population.
Study Design:
This study is an open-label clinical trial of methylprednisolone in patients with FRDA.
Setting/Participants:
This study will take place at the Children's Hospital of Philadelphia as an outpatient trial in 5 children who are at least 5 years and less than 10 years of age, and in 5 adults ages 45 years and older, with genetically confirmed FRDA.
See below for description of study intervention and measures.
- Conditions
- Friedreich Ataxia
- Being tested
- Methylprednisolone
- Keywords
- Friedreich Ataxia, FRDA
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Oral tablets of methylprednisolone 8 mg. Subjects will receive a monthly prescription bottle of 25 tablets (standard quantity) and will self-administer 21 tablets over a 28-day dosing cycle.
| Study group | Role | What they receive |
|---|---|---|
| Methylprednisolone | Experimental | This is an open-label study of methylprednisolone in patients with FRDA. Subjects will begin oral administration of 48 mg methylprednisolone at day 1 and will decrease their administered dose by 8 mg per day. After 6 days, subjects will spend 22 days off medication before repeating the same treatment cycle. Last dosing cycle of methylprednisolone will be administered at 24 weeks after baseline. Visits will occur at weeks 2, 6, 14, 26, and 30 following baseline. Receives: Drug: Methylprednisolone |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in the Timed 25 Foot Walk (T25FW) Score
The T25FW is a quantitative mobility and leg function performance test based on a timed 25-foot walk. The subject is directed to one end of a clearly marked 25-foot course and is instructed to walk 25 feet as quickly as possible. The time is calculated from the initiation of the instruction to start and ends when the subject has reached the 25-foot mark. The task is immediately administered again by having the subject walk back the same distance. Subjects may use assistive devices when doing this task.
Measured: This outcome will be measured at baseline and 26 weeks
Secondary outcomes (3)
Change in the Friedreich Ataxia Rating Scale (FARS) Score
The Friedreich Ataxia Rating Scale (FARS) is neurological rating scale specifically developed and validated for FRDA. The FARS includes assessments of stance, gait, upper and lower limb coordination, speech, proprioception and strength. In addition to the standard neurological examination, the FARS contains three quantitative performance measures and a component that assesses activities of daily living (ADL). Quantitative performance measures include the nine-hole peg test, and a timed 25-foot walk. FARS scores correlate significantly with functional disability, activities of daily living scores and disease duration. The scores from the three subscales are added to generate a total score ranging from 0 to 159, with a higher score indicating a greater level of disability.
Measured: This outcome will be measured at baseline and 26 weeks
Change in The 1-Minute Walk Distance
The 1-Minute Walk is a quantitative mobility and leg function performance test based on distance traveled in 1 minute. The subject is directed to one end of a clearly marked 25-foot course and instructed to walk back and forth as quickly as possible for 1 minute. The distance is calculated by measuring how far the subject travels along the 25-foot course. Subjects may use assistive devices during this task.
Measured: This outcome will be measured at baseline and 26 weeks
Change in the Change in the 9-Hole Peg Test (9HPT) Time
The 9HPT is a brief, standardized, quantitative test of upper extremity function. Both the dominant and non-dominant hands are tested twice. The subject is seated at a table with a small, shallow container holding nine pegs and a wood or plastic block containing nine empty holes. The total time to complete each of four trials is recorded. Two consecutive trials with the dominant hand are immediately followed by two consecutive trials with the non-dominant hand.
Measured: This outcome will be measured at baseline and 26 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Apr 2015 (estimated)
- Study startJun 2015
- Primary completionDec 2017
- Study completionApr 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Friedreich AtaxiaStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- 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
- Early Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Collaborators
- Friedreich's Ataxia Research Alliance
- Responsible party
- Sponsor
- Investigators
- David R Lynch, MD PhD, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02424435
- Sponsor's protocol ID
- 15-011801
- Status last verified
- Mar 2021
- First submitted
- 16 Apr 2015
- Last updated
- 25 Mar 2021
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 25 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Open-label Pilot Study of Methylprednisolone for the Treatment of Patients With Friedreich Ataxia (FRDA)
- ClinicalTrials.gov ID
- NCT02424435
- Acronym / sponsor ID
- 15-011801
- Conditions
- Friedreich Ataxia
- Keywords
- Friedreich Ataxia, FRDA
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 11 participants (actual)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Collaborators
- Friedreich's Ataxia Research Alliance
- Study start
- Jun 2015 (actual)
- Primary completion
- Dec 2017 (actual)
- Study completion
- Apr 2018 (actual)
- First posted
- 23 Apr 2015 (estimated)
- 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.
This study will explore whether methylprednisolone treatment is safe, well-tolerated, and beneficial in patients that are diagnosed with Friedreich Ataxia (FRDA). The study will also explore if methylprednisolone has any effects on biomarkers associated with FRDA. All subjects in the study will receive the same steroid treatment.
Detailed description
Context:
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. One of the hallmarks of FRDA is a deficiency of frataxin protein, causing dysregulation of iron metabolism, lack of detoxification, and increased iron bioavailability. The accumulation of iron in mitochondria leads to increased sensitivity to oxidative stress. A secondary inflammatory response has also been proposed to be present in FRDA, as revealed in autopsy studies and in the alteration of immune pathways in microarray analysis. Inflammation in FRDA raises the possibility of a therapeutic benefit from anti-inflammatory steroid treatment, as inflammation may directly underlie multiple complications of FRDA including cardiomyopathy. In support of this theory are clinical observations and patient self-reports of improvement of ataxia symptoms following the prescription of steroids for indications other than the primary FRDA diagnosis.
Objectives:
Primary: To assess the effect of oral administration of methylprednisolone on the functional performance scores of patients with FRDA using the Timed 25-Foot Walk (T25FW).
Secondary: To assess the effect of methylprednisolone on neurological performance measures (Friedreich Ataxia Rating Scale, 9-Hole Peg Test, 1-minute walk, home-based measures of gait, hand function and speech assessed through smartphone application) and to assess the safety and tolerability of methylprednisolone in the FRDA population.
Study Design:
This study is an open-label clinical trial of methylprednisolone in patients with FRDA.
Setting/Participants:
This study will take place at the Children's Hospital of Philadelphia as an outpatient trial in 5 children who are at least 5 years and less than 10 years of age, and in 5 adults ages 45 years and older, with genetically confirmed FRDA.
See below for description of study intervention and measures.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Methylprednisolone | Experimental | Drug: MethylprednisoloneThis is an open-label study of methylprednisolone in patients with FRDA. Subjects will begin oral administration of 48 mg methylprednisolone at day 1 and will decrease their administered dose by 8 mg per day. After 6 days, subjects will spend 22 days off medication before repeating the same treatment cycle. Last dosing cycle of methylprednisolone will be administered at 24 weeks after baseline. Visits will occur at weeks 2, 6, 14, 26, and 30 following baseline. |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Subjects with FRDA confirmed by genetic testing who are able to walk 25 feet (assistive devices allowed).
- Children between ages 5 and less than 10 years or adults ages 45 years and older at screening.
- Stable doses of all medications, vitamins and supplements for 30 days prior to study entry and for the duration of the study. Throughout the study, all possible efforts will be made to maintain stable doses of concomitant medications.
- Females who are not pregnant or breast feeding, and who do not intend to become pregnant. Females of child-bearing potential must use a reliable method of contraception and must provide a negative urine pregnancy test at screening.
- Informed consent for adult participants, parent/guardian permission (informed consent) and child assent for pediatric participants.
Key exclusion criteria (12 listed)
- Patients unable to walk 25 feet.
- Treatment with methylprednisolone or cyclic methylprednisolone during the 3 previous months before inclusion.
- Treatment with gamma interferon, immunoglobulin G or other immunomodulating treatment the 3 previous month before inclusion
- Immunosuppressive treatment within 6 month of inclusion
- Prior history of a disease associated with immune dysfunction
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 |
|---|---|---|
| MethylprednisoloneOral tablets of methylprednisolone 8 mg. Subjects will receive a monthly prescription bottle of 25 tablets (standard quantity) and will self-administer 21 tablets over a 28-day dosing cycle. | Drug | Methylprednisolone |
Primary outcome
Change in the Timed 25 Foot Walk (T25FW) Score
Time frame: This outcome will be measured at baseline and 26 weeks
The T25FW is a quantitative mobility and leg function performance test based on a timed 25-foot walk. The subject is directed to one end of a clearly marked 25-foot course and is instructed to walk 25 feet as quickly as possible. The time is calculated from the initiation of the instruction to start and ends when the subject has reached the 25-foot mark. The task is immediately administered again by having the subject walk back the same distance. Subjects may use assistive devices when doing this task.
3 secondary outcomes
Change in the Friedreich Ataxia Rating Scale (FARS) Score
Time frame: This outcome will be measured at baseline and 26 weeks
Change in The 1-Minute Walk Distance
Time frame: This outcome will be measured at baseline and 26 weeks
Change in the Change in the 9-Hole Peg Test (9HPT) Time
Time frame: This outcome will be measured at baseline and 26 weeks
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 25 Mar 2021.
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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.
David R Lynch, MD PhD principal investigator
Children's Hospital of Philadelphia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Early Phase 1 study testing Methylprednisolone in people with Friedreich Ataxia, run by Children's Hospital of Philadelphia at 1 site in United States.
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 5 inclusion and 12 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 25 Mar 2021. 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 United States. 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.
What does this phase mean?
Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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?
Change in the Timed 25 Foot Walk (T25FW) Score (time frame: This outcome will be measured at baseline and 26 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 25 Mar 2021.