NCT07377032Toboroz3. fázis
TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
L-serine Supplementation in Patients With GRIN-related Neurodevelopmental Disorders: Multicentre Protocol for an Aggregated Series of Randomised, Placebo-controlled N-of-1 Trials
Forrás: ClinicalTrials.gov · Utoljára frissítve: 2026. jan. 29.
Rövid összefoglaló (regiszter, angolul)
The goal of this clinical study is to find out whether L-serine dietary supplementation helps improve overall clinical functioning in children and young adults (2-30 years) with GRIN-related neurodevelopmental disorders (GRIN-NDD) caused by loss-of-function (LoF) variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D. It will also assess the safety and tolerability of L-serine. The main questions it aims to answer are: Does L-serine improve overall clinical status, measured mainly by the Clinical Global Impression-Severity (CGI-S) score? Does L-serine improve behaviour, cognition, adaptive functioning, motor skills, sleep, and (in those with epilepsy) seizure frequency and EEG findings? What side effects or medical problems occur during L-serine compared with placebo? Do neurophysiological measures (including TMS-EMG/TMS-EEG) change with treatment and potentially act as biomarkers of response? Researchers will compare L-serine to a placebo (maltodextrin powder with similar appearance/texture) using a randomised, double-blind, placebo-controlled "n-of-1" approach, where each participant receives both treatments in alternating periods. Results from multiple single-patient trials will then be combined (aggregated) to estimate the overall treatment effect across the study population. Participants will: Complete a 4-week baseline period with assessments (and seizure diary use where applicable) Receive L-serine and placebo in alternating 3-month periods within each cycle (minimum 2 cycles, up to 4 cycles; each cycle lasts 6 months) Take the assigned study product by mouth 3 times per day at 500 mg/kg/day (maximum 30 g/day for participants ≥60 kg) Have the first 7 days of each 3-month period treated as washout, with data from that week not analysed Attend regular clinic visits for clinical exams, safety labs, and standardized assessments of global status, behaviour/cognition, motor function, and sleep If they have epilepsy: keep a seizure diary and undergo EEG assessments after each treatment period In some sites (Italy and France): undergo TMS-based neurophysiology testing Optionally, a subset may join a cellular biomarker substudy (blood collection to generate iPSC-derived neuronal models and organoids) to explore treatment effects in variant-specific lab models.
- Állapot (regiszter)
- Toboroz
- Fázis (regiszter)
- 3. fázis
- Vizsgálattípus
- Beavatkozással járó
- Résztvevők száma
- 40 (tervezett)
- Első benyújtás
- 2026. jan. 19.
- Kezdés
- 2025. aug. 29.
- Elsődleges befejezés
- 2028. jún.
- Fő szponzor
- Meyer Children's Hospital IRCCS
- Betegségek
- Epilepszia
- NCT-szám
- NCT07377032
Mit vállalsz
- Vizsgálat típusa: Beavatkozással járó · 3. fázis
- Tervezett résztvevők: 40
- 2025. aug. 29. és az elsődleges befejezés (2028. jún.) között
- 3 helyszín, 3 országban
- Vizitek és vizsgálatok: kérdezd a vizsgálat csapatát, a regiszter nem sorolja fel őket
A(z) ClinicalTrials.gov regisztermezőiből összeállítva. A vizsgálat felépítését írja le.
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Korábbi kezelés
- Participation in another clinical trial involving an investigational medicinal product within the previous 6 months.
Más betegség
- Known hypersensitivity or intolerance to L-serine, placebo, or any excipients used in the study formulations.
- Presence of a clinically significant unstable medical condition (other than epilepsy) that, in the investigator's judgement, may place the participant at increased risk or interfere with study participation.
- Any other significant disease or disorder that may compromise participant safety, affect study outcomes, or impair the participant's ability to complete the study procedures.
Életkor
- Age younger than 2 years at screening.
Egyéb
- Inadequate supervision by parent(s) or caregiver(s), as judged by the investigator.
- Female participants who are pregnant or breastfeeding.
- Presence of a GRIN1, GRIN2A, GRIN2B, or GRIN2D variant for which a clear loss-of-function effect cannot be demonstrated.
Kiket keres a vizsgálat
- Clinical diagnosis of a GRIN-related neurodevelopmental disorder (GRIN-NDD)
- Presence of a pathogenic or likely pathogenic loss-of-function (LoF) variant in GRIN1, GRIN2A, GRIN2B, or GRIN2D
- Parent(s), caregiver(s), or legally authorised representative(s) have been informed of the nature of the study and have provided written informed consent.
- Participants who are able to do so have provided written informed consent or assent, according to local regulations and cognitive capacity.
- Parent(s)/caregiver(s) are willing and able to comply with study procedures and visits, in the opinion of the investigator.
- Participants who have previously received L-serine supplementation are willing to discontinue L-serine for at least one week prior to the baseline observation period.
Életkor a regiszterben: 2 év – 30 év · Nem: nők és férfiak · Egészséges önkénteseket nem fogad
Helyszínek (3)
Helyszínek a regiszter sorrendjében. Ha a profilodba mented a városodat, távolság szerint rendeződnek.
| Helyszín | Város | Ország | Helyszín állapota |
|---|---|---|---|
| Hospices Civils de Lyon | Lyon | Franciaország | Toborzás még nem indult |
| Meyer Children's Hospital | Florence | Olaszország | Toboroz |
| Children's Memorial Health Institute | Warsaw | Lengyelország | Toboroz |
Ez az oldal tájékoztatás, nem orvosi tanács. Bármely vizsgálatról az orvosoddal beszélj.