Clinical trial · Observational
Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Neurofibromatosis 1 | — | UNRESOLVED | — |
Interventions
Interventions (2)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Blood draw | Diagnostic Test | — | UNRESOLVED |
| FACIT-F and Pain Scales | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- NF1 Group
- description
- This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.
- interventionNames
- Diagnostic Test: Blood draw
- Other: FACIT-F and Pain Scales
- label
- Control Group
- description
- This study will look to enroll 10 to 15 adults over 18 years old without NF1.
- interventionNames
- Diagnostic Test: Blood draw
Primary outcomes (7)
- measure
- Mitochondrial Respiration Efficiency (as Measured by OCR).
- timeFrame
- Baseline, Week 14, Week 28
- description
- Mitochondrial respiration efficiency is measured here by the oxygen consumption rate (OCR) which is measured in units of picomoles per minute.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
NF1 Group: Inclusion Criteria: * Diagnosed with NF1 Inclusion Criteria: * Not the first degree relative (biological parent, sibling, or child) of the NF1 patient who is in the NF1 group
References
Publications (0)
Data not yet available