N/A
Completed N=55
Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1
Neurofibromatosis 1
Source: ClinicalTrials.gov NCT05912400 ↗
Enrolled (actual)
55
Serious AEs
—
Results posted
May 2025
Primary outcomePrimary: Mitochondrial Respiration Efficiency (as Measured by OCR). — 67.7167; 53.7000; 73.3358; 68.5789 picomole/minute — p=<0.01
Summary
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.
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Mitochondrial Respiration Efficiency (as Measured by OCR). |
67.7167; 53.7000; 73.3358; 68.5789 | <0.01 sig |
| PRIMARY Mitochondrial Respiration Efficiency (as Measured by ECAR). |
29.6667; 19.8500; 32.4583; 33.0467 | 0.54 |
| PRIMARY Vitamin D Levels |
33.665909090909 | 0.36 |
| PRIMARY Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients |
2.70; 2.05; 1.78 | <0.01 sig |
| PRIMARY Pain (as Measured With NRS-11 for Best Pain Over the Past 24 Hours) of NF1 Patients |
1.95; 1.41; 1.53 | 0.02 sig |
| PRIMARY Pain (as Measured With NRS-11 for Worst Pain Over the Past 24 Hours) of NF1 Patients |
4.77; 3.38; 2.61 | 0.03 sig |
| PRIMARY Fatigue (as Measured FACIT-F TOI) of NF1 Patients. |
71.9943; 73.1752; 75.3935 | 0.88 |
Eligibility Criteria
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
Data sourced from ClinicalTrials.gov (NCT05912400). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication. Informational only — not medical advice.