Neurofibromatosis 1NCT05912400

Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

An observational study of Neurofibromatosis 1, run by University of Arkansas at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

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Trial summary

Who is it for?: Ages 18 years and olderHealthy volunteers can take part
Conditions the study is for: Neurofibromatosis 1
What is being tested?: Blood draw and FACIT-F and Pain Scales
How many people: 55 participants
Where: 1 siteUnited States
Study dates: 26 Jul 2023to 23 Aug 2024
Phase: Observational
Are there results?: Yes, posted in the registrySummary in the doctors' view

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
All sexes
Healthy volunteers accepted
Adult, Older adult

Study population: * Patients with NF1 at the UAMS Adult NF1 clinic will be invited to participate in the study during their regular clinic appointments. * Spouses, friends, and non-relatives of NF1 patients who come to the UAMS Adult NF1 Clinic will be invited to participate in the control arm of the study at the time of the patient appointment.

Who may be able to join

Diagnosed with NF1
Not the first degree relative (biological parent, sibling, or child) of the NF1 patient who is in the NF1 group

Who cannot join

None listed.

Trial locations and contacts

1 site in 1 country.

United States1 site

University of Arkansas For Medical Sciences
Little Rock, Arkansas, 72205

Other trials in United States

About this study

Neurofibromatosis type 1 is a common genetic disease with a broad spectrum of clinical manifestations in multiple organs of the body. This project will study the (dys)function of mitochondria in patients with neurofibromatosis through multiple collections of blood samples from patients and people not afflicted by neurofibromatosis (control group). This study will evaluate how the function of mitochondria changes with time and if medications and supplements can influence the function of the mitochondria. Patients will also answer questions regarding symptoms like fatigue and pain.

Read the detailed description

Neurofibromatosis type 1 is a common genetic disease with a broad spectrum of clinical manifestations in multiple organs of the body. Some of those symptoms are skin lesions, tumors and cancers, as also pain, and fatigue. In animal models of this disease, dysfunction of mitochondria, a part of the cell which is responsible for energy production, is often described. This project will study the (dys)function of mitochondria in patients with neurofibromatosis through multiple collections of blood samples from patients and people not afflicted by neurofibromatosis (control group). Those blood samples will be used to run tests that analyses the function of the mitochondria and compare the results from the neurofibromatosis group with the control group. As multiple samples from the same patient will be tested in different times, this study will evaluate how the function of mitochondria changes with time and if medications and supplements can influence the function of the mitochondria. Patients will also answer questions regarding symptoms like fatigue and pain. Doing so, the investigator plan to confirm mitochondrial dysfunction in patients, if the degree of dysfunction correlates with symptoms like pain and fatigue, and if supplements and medication like MEK inhibitors that patients with neurofibromatosis type 1 use in a daily basis modulates (for better or worse) a pre-existing mitochondrial dysfunction.

Conditions: Neurofibromatosis 1
Being tested: Blood draw, FACIT-F and Pain Scales
Medical subject headings: Neurofibromatosis 1

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Blood drawDiagnostic test
- An additional 10 mL of blood will then be drawn for mitochondrial testing purposes.
FACIT-F and Pain ScalesOther
- Questionnaires regarding pain and fatigue will be provided for the subject to review and answer.

Study groups in NCT05912400
Study group	Role	What they receive
NF1 Group		This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1. Receives: Diagnostic Test: Blood draw; Other: FACIT-F and Pain Scales
Control Group		This study will look to enroll 10 to 15 adults over 18 years old without NF1. Receives: Diagnostic Test: Blood draw

What is being measured

The primary outcome is the main question the study is designed to answer.

Mitochondrial Respiration Efficiency (as Measured by OCR).
Mitochondrial respiration efficiency is measured here by the oxygen consumption rate (OCR) which is measured in units of picomoles per minute.
Measured: Baseline, Week 14, Week 28
Mitochondrial Respiration Efficiency (as Measured by ECAR).
Mitochondrial respiration efficiency is measured here by the extracellular acidification rate (ECAR) which is measured in millipH per minute.
Measured: Baseline, Week 14, Week 28
Vitamin D Levels
We hypothesize that mitochondrial dysfunction among NF1 patients sensitizes them to therapeutic interventions targeting mitochondria. We will assess the impact of vitamin D treatment to potentially improve mitochondrial function as measured by OCR. Vitamin D is measured in units of nanogram per milliliter.
Measured: Baseline
Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients
The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for current pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).
Measured: Baseline, Week 14, Week 28
Pain (as Measured With NRS-11 for Best Pain Over the Past 24 Hours) of NF1 Patients
The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for best pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).
Measured: Baseline, Week 14, Week 28
Pain (as Measured With NRS-11 for Worst Pain Over the Past 24 Hours) of NF1 Patients
The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for worst pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).
Measured: Baseline, Week 14, Week 28
Fatigue (as Measured FACIT-F TOI) of NF1 Patients.
The NF1 clinical symptom of fatigue as measured with the Functional Assessment of Chronic Illness Therapy - Fatigue (FACIT-F). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).
The FACIT-F asks respondents to rate items on a scale from 0 to 4. There are 5 subscales with varying possible ranges (due to varying numbers of items) as follows:
1. Physical Well-Being Subscale: Range 0-28,
2. Social/Family Well-Being Subscale: Range 0-28,
3. Emotional Well-Being Subscale: Range 0-24,
4. Functional Well-Being Subscale: Range 0-28, and
5. Fatigue Subscale: Range 0-52. The Trial Outcome Index (TOI) is the total score we chose to analyze. It consists of the sum of the Physical Well-Being Subscale, Functional Well-Being Subscale, and Fatigue Subscale and has a score range of 0-108.
The higher the score, the better the quality of life.
Measured: Baseline, Week 14, Week 28

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

26 Jul 202323 Aug 2024

First posted22 Jun 2023
Study start26 Jul 2023
Primary completion23 Aug 2024
Study completion23 Aug 2024

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
Other trials for Neurofibromatosis 1Studies 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: Observational
Observational model: Other
Time perspective: Prospective
Enrolment: 55 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT05912400
Sponsor's protocol ID: 274877
Status last verified: Mar 2025
First submitted: 31 May 2023
Last updated: 8 May 2025
Results posted: Yes, on ClinicalTrials.gov
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: No

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

RecruitingObservational study
Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)
Neurofibromatosis 1, Plexiform Neurofibromas
RecruitingPhase 2
Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2)
Neurofibromatosis Type 2, Vestibular Schwannoma
RecruitingPhase 1
PAS-004 in Adults Who Have Neurofibromatosis Type 1 With Plexiform Neurofibromas
NF1 Mutation, Neurofibroma Plexiform
Not yet recruitingPhase 2
Selumetinib for NF2-Related Schwannomatosis
Neurofibromatosis Type 2, NF2
Not yet recruitingPhase 2
Combination of Avutometinib and Defactinib for Treatment of Relapsed, Refractory, Metastatic, or Unresectable Malignant Peripheral Nerve Sheath Tumor
MPNST (Malignant Peripheral Nerve Sheath Tumor)

All Neurofibromatosis 1 trials

Study at a glance

From the registry record, last updated by the sponsor on 8 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1
ClinicalTrials.gov ID: NCT05912400
Acronym / sponsor ID: 274877
Conditions: Neurofibromatosis 1
Study type: Observational
Recruitment status: Completed
Enrolment: 55 participants (actual)
Lead sponsor: University of ArkansasUniversity, hospital or other
Study start: 26 Jul 2023 (actual)
Primary completion: 23 Aug 2024 (actual)
Study completion: 23 Aug 2024 (actual)
First posted: 22 Jun 2023 (actual)
Results: Posted 8 May 2025

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

Study design

Observational model: Other
Time perspective: Prospective
Number of arms: 2

Arm	Type	Receives
NF1 Group	–	Diagnostic Test: Blood draw, Other: FACIT-F and Pain ScalesThis study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.
Control Group	–	Diagnostic Test: Blood drawThis study will look to enroll 10 to 15 adults over 18 years old without NF1.

Who may qualify

Ages: 18 years and older
Sex: All
Healthy volunteers: Accepted
Age groups: Adult, Older adult
Study population: * Patients with NF1 at the UAMS Adult NF1 clinic will be invited to participate in the study during their regular clinic appointments. * Spouses, friends, and non-relatives of NF1 patients who come to the UAMS Adult NF1 Clinic will be invited to participate in the control arm of the study at the time of the patient appointment.

Key inclusion criteria (2 listed)

Diagnosed with NF1
Not the first degree relative (biological parent, sibling, or child) of the NF1 patient who is in the NF1 group

Key exclusion criteria (0 listed)

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
Blood draw• An additional 10 mL of blood will then be drawn for mitochondrial testing purposes.	Diagnostic test	Control Group, NF1 Group
FACIT-F and Pain Scales• Questionnaires regarding pain and fatigue will be provided for the subject to review and answer.	Other	NF1 Group

Primary outcome

Mitochondrial Respiration Efficiency (as Measured by OCR).
Time frame: Baseline, Week 14, Week 28
Mitochondrial respiration efficiency is measured here by the oxygen consumption rate (OCR) which is measured in units of picomoles per minute.
Mitochondrial Respiration Efficiency (as Measured by ECAR).
Time frame: Baseline, Week 14, Week 28
Mitochondrial respiration efficiency is measured here by the extracellular acidification rate (ECAR) which is measured in millipH per minute.
Vitamin D Levels
Time frame: Baseline
We hypothesize that mitochondrial dysfunction among NF1 patients sensitizes them to therapeutic interventions targeting mitochondria. We will assess the impact of vitamin D treatment to potentially improve mitochondrial function as measured by OCR. Vitamin D is measured in units of nanogram per milliliter.
Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients
Time frame: Baseline, Week 14, Week 28
The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for current pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).
Pain (as Measured With NRS-11 for Best Pain Over the Past 24 Hours) of NF1 Patients
Time frame: Baseline, Week 14, Week 28
The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for best pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).
Pain (as Measured With NRS-11 for Worst Pain Over the Past 24 Hours) of NF1 Patients
Time frame: Baseline, Week 14, Week 28
The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for worst pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).
Fatigue (as Measured FACIT-F TOI) of NF1 Patients.
Time frame: Baseline, Week 14, Week 28
The NF1 clinical symptom of fatigue as measured with the Functional Assessment of Chronic Illness Therapy - Fatigue (FACIT-F). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits). The FACIT-F asks respondents to rate items on a scale from 0 to 4. There are 5 subscales with varying possible ranges (due to varying numbers of items) as follows: 1. Physical Well-Being Subscale: Range 0-28, 2. Social/Family Well-Being Subscale: Range 0-28, 3. Emotional Well-Being Subscale: Range 0-24, 4. Functional Well-Being Subscale: Range 0-28, and 5. Fatigue Subscale: Range 0-52. The Trial Outcome Index (TOI) is the total score we chose to analyze. It consists of the sum of the Physical Well-Being Subscale, Functional Well-Being Subscale, and Fatigue Subscale and has a score range of 0-108. The higher the score, the better the quality of life.

Results and safety

Results posted to the registry on 8 May 2025, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
NF1 Group (Longitudinal Group)	44	36
Control Group (Cross-sectional Group)	11	11

Primary outcome: Mitochondrial Respiration Efficiency (as Measured by OCR).

Time frame: Baseline, Week 14, Week 28. Mean (Standard Deviation). Unit: picomole/minute

Measure	NF1 Group (Longitudinal Group) n = 40	Control Group (Cross-sectional Group) n = 11
Baseline	67.7167 (19.13264)	53.7000 (24.08510)
Week 14	73.3358 (22.92499)	–
Week 28	68.5789 (17.76314)	–

NF1 Group (Longitudinal Group): p <0.01, Spearman's Rho
NF1 Group (Longitudinal Group): p = 0.02, Spearman's Rho
NF1 Group (Longitudinal Group): p = 0.03, Spearman's Rho

Population analysed: The analysis population was determined by how many OCR values (corresponding to blood samples) we had for each visit. We had 24 values for Visit 1, 40 for Visit 2, and 30 for Visit 3 (24+40+30=94). This had to do with logistics (getting blood samples, using the Seahorse XF Bioanalyzer). For the control group, which only had a single blood draw, there were 11 blood samples.

Primary outcome: Mitochondrial Respiration Efficiency (as Measured by ECAR).

Time frame: Baseline, Week 14, Week 28. Mean (Standard Deviation). Unit: millipH/minute

Measure	NF1 Group (Longitudinal Group) n = 40	Control Group (Cross-sectional Group) n = 11
Baseline	29.6667 (9.13282)	19.8500 (10.64305)
Week 14	32.4583 (11.65965)	–
Week 28	33.0467 (7.87990)	–

NF1 Group (Longitudinal Group): p = 0.54, Spearman's Rho
NF1 Group (Longitudinal Group): p = 0.36, Spearman's Rho
NF1 Group (Longitudinal Group): p = 0.94, Spearman's Rho

Population analysed: The analysis population was determined by how many ECAR values (corresponding to blood samples) we had for each visit. We had 24 values for Visit 1, 40 for Visit 2, and 30 for Visit 3 (24+40+30=94). This had to do with logistics (getting blood samples, using the Seahorse XF Bioanalyzer).

Primary outcome: Vitamin D Levels

Time frame: Baseline. Mean (Standard Deviation). Unit: nanogram/milliliter

Measure	NF1 Group (Longitudinal Group) n = 44	Control Group (Cross-sectional Group) n = 0
Value	33.665909090909 (13.898183638758)	–

NF1 Group (Longitudinal Group): p = 0.36, Spearman's Rho
NF1 Group (Longitudinal Group): p = 0.51, Spearman's Rho

Population analysed: The analysis population was determined by how many vitamin D level values were found in the medical records of participants.

Primary outcome: Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients

Time frame: Baseline, Week 14, Week 28. Mean (Standard Deviation). Unit: Questionnaire score

Measure	NF1 Group (Longitudinal Group) n = 44	Control Group (Cross-sectional Group) n = 0
Baseline	2.70 (3.137)	–
Week 14	2.05 (3.077)	–
Week 28	1.78 (2.706)	–

NF1 Group (Longitudinal Group): p <0.01, Spearman's Rho
NF1 Group (Longitudinal Group): p = 0.54, Spearman's Rho

Population analysed: The analysis population was determined by how many participants completed the NRS-11 for each visit. We had 44 values for Visit 1, 39 for Visit 2, and 36 for Visit 3 (44+39+36=119).

Adverse events

Other adverse events reported at 0% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
NF1 Group	0 of 0	0 of 0	0
Control Group	0 of 0	0 of 0	0

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 8 May 2025.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Individual participant dataSharing planned: No

Related trials for Neurofibromatosis 1

RecruitingObservational study
Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)
Neurofibromatosis 1, Plexiform Neurofibromas
RecruitingPhase 2
Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2)
Neurofibromatosis Type 2, Vestibular Schwannoma
RecruitingPhase 1
PAS-004 in Adults Who Have Neurofibromatosis Type 1 With Plexiform Neurofibromas
NF1 Mutation, Neurofibroma Plexiform
Not yet recruitingPhase 2
Selumetinib for NF2-Related Schwannomatosis
Neurofibromatosis Type 2, NF2
Not yet recruitingPhase 2
Combination of Avutometinib and Defactinib for Treatment of Relapsed, Refractory, Metastatic, or Unresectable Malignant Peripheral Nerve Sheath Tumor
MPNST (Malignant Peripheral Nerve Sheath Tumor)

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.

Erika Santos Horta, MD principal investigator

University of Arkansas

1 site in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

An observational study of Neurofibromatosis 1, run by University of Arkansas 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 2 inclusion and 0 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 8 May 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 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.

Are results available for this study?

Yes. Results are posted in the registry (first posted 8 May 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

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?

Mitochondrial Respiration Efficiency (as Measured by OCR). (time frame: Baseline, Week 14, Week 28). The study lists 7 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 NCT05912400.

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 8 May 2025; AzTrials last refreshed its copy on 30 Oct 2026.